Variant report

Variant	rs805437
Chromosome Location	chr2:54054978-54054979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54054213..54056841-chr2:54086563..54088065,2	K562	blood:

Variant related genes	Relation type
ENSG00000115239	Chromatin interaction
ENSG00000119737	Chromatin interaction
ENSG00000270898	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10490468	0.92[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11897282	0.84[CHB][hapmap]
rs11901698	0.84[CHB][hapmap]
rs1232	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13408029	0.91[CHB][hapmap]
rs17045176	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs17045199	0.88[CEU][hapmap]
rs17045203	0.84[CHB][hapmap]
rs17520505	0.92[CHB][hapmap]
rs2287340	0.84[CHB][hapmap]
rs2302797	0.84[CHB][hapmap]
rs2542572	0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2542573	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2542578	0.93[ASN][1000 genomes]
rs2542580	0.93[ASN][1000 genomes]
rs2542582	0.82[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2542583	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2542589	0.88[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2542590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2542591	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2542592	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2543629	0.92[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2692512	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692513	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692516	0.84[CEU][hapmap]
rs2692519	0.92[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2692521	0.92[ASN][1000 genomes]
rs2692522	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2692523	0.93[ASN][1000 genomes]
rs2692530	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2692533	0.92[ASW][hapmap];0.91[CEU][hapmap];0.92[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2692534	0.84[CEU][hapmap];0.81[LWK][hapmap]
rs2909262	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2949813	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs2949814	0.93[ASN][1000 genomes]
rs3770394	0.84[CHB][hapmap]
rs3770397	0.81[ASN][1000 genomes]
rs4116709	0.92[CHB][hapmap]
rs62137602	0.81[ASN][1000 genomes]
rs719127	0.84[CHB][hapmap]
rs805316	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs805325	0.82[ASN][1000 genomes]
rs805326	0.82[ASN][1000 genomes]
rs805327	0.82[ASN][1000 genomes]
rs805334	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs805338	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs805368	0.94[ASN][1000 genomes]
rs805383	0.96[ASN][1000 genomes]
rs805385	0.96[ASN][1000 genomes]
rs805398	0.92[ASN][1000 genomes]
rs805413	0.86[ASN][1000 genomes]
rs805435	0.90[ASN][1000 genomes]
rs805446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs805447	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs805449	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805437	ACYP2	cis	multi-tissue	Pritchard

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54062000	Weak transcription	Right Ventricle	heart
2	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:54030400-54063000	Weak transcription	Esophagus	oesophagus
4	chr2:54040200-54055000	Weak transcription	Fetal Heart	heart
5	chr2:54041400-54056400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:54042800-54062200	Weak transcription	Fetal Kidney	kidney
7	chr2:54046600-54080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:54046600-54080200	Weak transcription	NHDF-Ad	bronchial
9	chr2:54046800-54056800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:54046800-54060400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:54046800-54070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:54046800-54080400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:54047000-54056600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:54047000-54060600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:54047000-54061400	Weak transcription	Fetal Thymus	thymus
16	chr2:54047000-54080200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:54047000-54080200	Weak transcription	A549	lung
18	chr2:54047000-54080400	Weak transcription	Gastric	stomach
19	chr2:54047000-54080400	Weak transcription	Pancreas	Pancrea
20	chr2:54047000-54080800	Weak transcription	Aorta	Aorta
21	chr2:54047200-54055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:54047200-54056800	Weak transcription	HSMMtube	muscle
23	chr2:54047200-54059600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:54047200-54061800	Weak transcription	Thymus	Thymus
25	chr2:54047200-54063000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:54047200-54067600	Weak transcription	HSMM	muscle
27	chr2:54047200-54070800	Weak transcription	Placenta	Placenta
28	chr2:54047200-54077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:54047200-54080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:54047200-54080200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:54047200-54080200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:54047200-54080200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:54047200-54080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:54047200-54080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:54047200-54080800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:54047400-54055800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:54047600-54058400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:54047600-54080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:54047600-54080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:54047800-54064200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:54048200-54065000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:54050200-54080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:54050400-54080200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:54050600-54080200	Weak transcription	Fetal Stomach	stomach
45	chr2:54051000-54080000	Weak transcription	Osteobl	bone
46	chr2:54052400-54055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:54052800-54056200	Enhancers	Brain Substantia Nigra	brain
48	chr2:54053000-54055000	Enhancers	Adipose Nuclei	Adipose
49	chr2:54053000-54055000	Flanking Active TSS	HepG2	liver
50	chr2:54053000-54055200	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links